rs121918456, PTPN11

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 21 2002 2019
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 17 2001 2017
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 10 2002 2016
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.752 0.280 12 112473023 missense variant A/C;G snv 0.720 1.000 2 2002 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.280 12 112473023 missense variant A/C;G snv 0.710 1.000 15 2002 2011
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
10 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
11 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.752 0.280 12 112473023 missense variant A/C;G snv 0.020 1.000 2 2011 2017
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.752 0.280 12 112473023 missense variant A/C;G snv 0.010 1.000 1 2009 2009